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PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients
Author(s) -
Manco Licínio,
Ribeiro M. Letícia,
Almeida Helena,
Freitas Orquídea,
Abade Augusto,
Tamagnini Gabriel
Publication year - 1999
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1999.01387.x
Subject(s) - missense mutation , exon , mutation , genetics , intron , biology , pyruvate kinase deficiency , splice site mutation , hemolytic anemia , genotype , phenotype , microbiology and biotechnology , gene , genotype phenotype distinction , rna splicing , pyruvate kinase , endocrinology , immunology , alternative splicing , glycolysis , metabolism , rna
In nine unrelated Portuguese patients with pyruvate kinase (PK) deficient anaemia, whose symptoms ranged from a mild chronic haemolytic anaemia to a severe anaemia presenting at birth and requiring multiple transfusions, the PK‐LR gene mutations were identified and correlated with their phenotypes. Five different mutations were identified, three of them for the first time: a missense mutation 1670G → C on exon 12 and two 5′ splice donor site (GT) mutations on intron 8 [IVS8(+2)T → G] and intron 10 [IVS10(+1)G → C]. Two previously described missense mutations, 1456C → T and 993C → A, were also found. The genotype/phenotype correlation showed that patients with two missense mutations or with a missense mutation and a splicing mutation had a mild haemolytic anaemia. The three patients with severe anaemia, who were transfusion dependent until splenectomy, were homozygous for the splicing site mutations IVS10(+1)G → C or IVS8(+2)T → G.